Canonical Allele Identifier: CA2078627683
Gene: SACS HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.23330171T= , CM000675.2:g.23330171T= GRCh38
NC_000013.10:g.23904310T= , CM000675.1:g.23904310T= GRCh37
NC_000013.9:g.22802310T= NCBI36
NG_012342.1:g.108532A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000682775.1:c.2186-18056A= ENSP00000508399.1:n.2186-18056A=
ENST00000682944.1:c.13732A= ENSP00000507173.1:p.Ile4578=
ENST00000683210.1:c.2185+23614A= ENSP00000506739.1:n.2185+23614A=
ENST00000683270.1:c.6446-687A= ENSP00000507624.1:n.6446-687A=
ENST00000683367.1:c.2177-687A= ENSP00000507780.1:n.2177-687A=
ENST00000683489.1:c.2292-219A= ENSP00000508403.1:n.2292-219A=
ENST00000683680.1:c.2319-219A= ENSP00000507223.1:n.2319-219A=
ENST00000684163.1:c.2204-687A= ENSP00000508262.1:n.2204-687A=
ENST00000684196.1:n.4543-687A=
ENST00000684325.1:c.2186-8497A= ENSP00000508121.1:n.2186-8497A=
ENST00000684385.1:c.2221-687A= ENSP00000507855.1:n.2221-687A=
ENST00000684497.1:c.2186-7527A= ENSP00000507057.1:n.2186-7527A=
ENST00000382292.9:c.13705A= MANE Select ENSP00000371729.3:p.Ile4569=
ENST00000423156.2:c.2186-687A= ENSP00000390925.2:n.2186-687A=
ENST00000455470.6:c.2432-687A= ENSP00000406565.2:n.2432-687A=
ENST00000382292.7:c.13705A= ENSP00000371729.3:p.Ile4569=
ENST00000382298.7:c.13705A= ENSP00000371735.3:p.Ile4569=
ENST00000402364.1:c.11455A= ENSP00000385844.1:p.Ile3819=
ENST00000423156.1:c.1058-687A= ENSP00000390925.1:n.1058-687A=
ENST00000455470.5:c.2130-687A=
NM_001278055.1:c.13264A= NP_001264984.1:p.Ile4422=
NM_014363.5:c.13705A= NP_055178.3:p.Ile4569=
XM_005266338.1:c.13732A= XP_005266395.1:p.Ile4578=
XM_011535038.1:c.13756A= XP_011533340.1:p.Ile4586=
XM_011535039.1:c.13723A= XP_011533341.1:p.Ile4575=
XM_005266338.2:c.13732A= XP_005266395.1:p.Ile4578=
XM_011535039.2:c.13723A= XP_011533341.1:p.Ile4575=
XM_017020539.1:c.13696A= XP_016876028.1:p.Ile4566=
XM_024449337.1:c.13732A= XP_024305105.1:p.Ile4578=
NM_014363.6:c.13705A= MANE Select NP_055178.3:p.Ile4569=
NM_001278055.2:c.13264A= NP_001264984.1:p.Ile4422=